Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (13)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Vogel, T.
Right arrow Articles by Cooke, H.J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Vogel, T.
Right arrow Articles by Cooke, H.J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 14, No. 12, 3023-3029, December 1999
© 1999 European Society of Human Reproduction and Embryology

Mice with Y chromosome deletion and reduced Rbm genes on a heterozygous Dazl1 null background mimic a human azoospermic factor phenotype

T. Vogel, R.M. Speed, P. Teague and H.J. Cooke1

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK

A subset of azoospermia or oligozoospermia patients have microdeletions in defined regions of their Y chromosome, namely the AZFa, b, and c regions. Candidate genes in humans that may cause the azoospermia factor (AZF) phenotype have been assigned to these regions and can include the DAZ and RBM genes. Part of the variability in the AZFc phenotype might be due to interaction between the effects of deleting the DAZ and RBM genes. We mimicked human deletions of RBM and DAZ in the mouse by crossing male mice with a deleted Y chromosome with a reduced number of Rbm genes (Yd1) to heterozygote Dazl1 null female mice to study the interaction of the Dazl1 and Rbm or other genes located in the Yd1 deletion interval. Dazl–/+ Yd1 animals showed a significant reduction in the sperm count (P < 0.001), an increase of abnormal sperm heads and prominent mid-piece defects of the tails compared to either mutation alone (P < 0.001). Hence, Dazl1 and the genes removed on the Yd1 chromosome are active in different pathways contributing to different stages of spermatogenesis. Reduction of Dazl1 and Rbm genes as well as/or deletion of the Y chromosome in mice gives rise to a phenotype similar to the heterogeneous AZFc phenotype observed in humans.

Key words: AZF/Dazl1/Rbm/spermatogenesis/Y chromosome

1 To whom correspondence should be addressed


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Mol Hum ReprodHome page
T. Vogel, R.M. Speed, A. Ross, and H.J. Cooke
Partial rescue of the Dazl knockout mouse by the human DAZL gene
Mol. Hum. Reprod., September 1, 2002; 8(9): 797 - 804.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
A. E. Calogero, M. R. Garofalo, N. Barone, A. De Palma, E. Vicari, R. Romeo, S. Tumino, and R. D'Agata
Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report
Hum. Reprod., September 1, 2001; 16(9): 1845 - 1848.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.